Abstract：Objective To explore the necessity and feasibility of mitochondrial deafness gene screening by detecting mitochondrial 12S rRNA gene mutations in neonates.Methods Mitochondrial 12S rRNA was detected by fluorescence quantitative PCR in 46 376 neonates born in the Fourth Hospital of Shijiazhuang from December 2018 to October 2021, and the mutation sites were A1555G and C1494. The neonates with positive results were followed up for vaccination.Results A total of 94 cases of mitochondrial 12S rRNA mutations were detected in 46 376 neonates,, and the positive rate was 0.20%. Among them, 76 cases were homogeneous of A1555G, and 14 cases were heterogeneous, among which 1 case was new. At the C1494T mutation, 3 cases were homogeneous and 1 case was heterogeneous.88 cases were followed up, ranging in age from 5 to 32 months,78 cases (88.64%) were routinely vaccinated according to the age of month, and the other 10 cases were partially vaccinated. The rate of normal vaccination was 88.64%, and there was statistical difference (P<0.01).Conclusions Mitochondrial 12S rRNA gene screening can detect aminoglycoside antibiotic sensitive individuals in the early stage and avoid the occurrence of drug-induced deafness.
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